ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.2991C>T (p.Tyr997=)

gnomAD frequency: 0.00001  dbSNP: rs368169159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002170602 SCV002347461 likely benign Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734412 SCV005367253 likely benign RAG1-related disorder 2019-08-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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